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ZNF480 Gene

protein-coding   GIFtS: 46
GCID: GC19P052800

Zinc Finger Protein 480

  Search for ZNF480
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Zinc Finger Protein 4801 2

External Ids:    HGNC: 233051   Entrez Gene: 1476572   Ensembl: ENSG000001984647   OMIM: 6139105   UniProtKB: Q8WV373   

Export aliases for ZNF480 gene to outside databases

Previous GC identifers: GC19P057493 GC19P057494 GC19P049130


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for ZNF480 Gene:
ZNF480 (zinc finger protein 480) is a protein-coding gene. GO annotations related to this gene include nucleic acid binding. An important paralog of this gene is ZNF534.

UniProtKB/Swiss-Prot: ZN480_HUMAN, Q8WV37
Function: Involved in transcriptional regulation as an activator




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Regulatory transcription factor binding sites in the ZNF480 gene promoter:
         STAT1   AP-1   ATF-2   STAT1beta   STAT1alpha   AREB6   Chx10   c-Jun   ATF6   Ik-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidZNF480 promoter sequence
   Search Chromatin IP Primers for ZNF480

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ZNF480


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19q13.41   Ensembl cytogenetic band:  19q13.41   HGNC cytogenetic band: 19q13.41

ZNF480 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ZNF480 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P052800:  view genomic region     (about GC identifiers)

Start:
52,800,426 bp from pter      End:
52,829,175 bp from pter
Size:
28,750 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: ZN480_HUMAN, Q8WV37 (See protein sequence)
Recommended Name: Zinc finger protein 480  
Size: 535 amino acids; 61708 Da
Developmental stage: Expressed in heart as early as the 24th week of gestation
Caution: It is uncertain whether Met-1 or Met-20 is the initiator. A 'GT' insertion (rs59214675) allows to extend
the sequence in the N-terminus. The majority of mRNAs do not have this insertion and the corresponding protein
sequences start at Met-20
Secondary accessions: Q5JPG9 Q6P0Q4 Q8N1M5
Alternative splicing: 3 isoforms:  Q8WV37-1   Q8WV37-2   Q8WV37-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ZNF480: NX_Q8WV37

Explore proteomics data for ZNF480 at MOPED


See ZNF480 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_653285.2  
ENSEMBL proteins: 
 ENSP00000417424   ENSP00000471754   ENSP00000473023   ENSP00000334164   ENSP00000418618  
 ENSP00000335670  
Reactome Protein details: Q8WV37

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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HGNC Gene Families:
ZNF: Zinc fingers, C2H2-type

4 InterPro protein domains:
 IPR001909 Krueppel-associated_box
 IPR015880 Znf_C2H2-like
 IPR013087 Znf_C2H2/integrase_DNA-bd
 IPR007087 Znf_C2H2

Graphical View of Domain Structure for InterPro Entry Q8WV37

ProtoNet protein and cluster: Q8WV37

2 Blocks protein domains:
IPB001909 KRAB box
IPB007086 C2H2-type zinc finger signature


UniProtKB/Swiss-Prot: ZN480_HUMAN, Q8WV37
Similarity: Belongs to the krueppel C2H2-type zinc-finger protein family
Similarity: Contains 12 C2H2-type zinc fingers
Similarity: Contains 1 KRAB domain


Find genes that share domains with ZNF480           About GenesLikeMe


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

     UniProtKB/Swiss-Prot Summary: ZN480_HUMAN, Q8WV37
Function: Involved in transcriptional regulation as an activator

     Gene Ontology (GO): 2 molecular function terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0003676nucleic acid binding IEA--
GO:0046872metal ion binding IEA--
     
Find genes that share ontologies with ZNF480           About GenesLikeMe


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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
ZN480_HUMAN, Q8WV37: Nucleus
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
nucleus5
cytosol3

Gene Ontology (GO): 4 cellular component terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005622intracellular ----
GO:0005634nucleus IDA--
GO:0005730NOT nucleolus IDA--
GO:0005737cytoplasm IDA--

Find genes that share ontologies with ZNF480           About GenesLikeMe


(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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SuperPaths for ZNF480 About    
See pathways by source

SuperPathContained pathways About
1Gene Expression
Generic Transcription Pathway0.40
Gene Expression0.40


Find genes that share SuperPaths with ZNF480           About GenesLikeMe

Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways


1 Reactome Pathway for ZNF480
    Generic Transcription Pathway


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Interactions:

    Search GeneGlobe Interaction Network for ZNF480

Gene Ontology (GO): 2 biological process terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0006351transcription, DNA-templated IEA--
GO:0006355regulation of transcription, DNA-templated IEA--

Find genes that share ontologies with ZNF480           About GenesLikeMe



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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  Browse compounds at ApexBio 

Browse Tocris compounds for ZNF480 (ZN480)



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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REFSEQ mRNAs for ZNF480 gene: 
NM_144684.2  

6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000468240 ENST00000595962 ENST00000598016 ENST00000334564 ENST00000490272
ENST00000335090(uc010ydl.2 uc002pyv.3 uc010ydm.2 uc010epn.3)

miRNA
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Selected AceView cDNA sequences (see all 128):

BQ430456 AA747435 BQ447637 AK091395 AU143777 AA984518 AK096442 AA810260 
AL832560 AI221353 AK096559 AW511127 AI224413 AA886255 BX113744 AA494119 
AA747809 AK024074 BQ228515 BU626851 CD358945 BE868844 AU131744 BG403621 

GeneLoc Exon Structure

3 Alternative Splicing Database (ASD) splice patterns (SP) for ZNF480    About this scheme

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c
SP1:                                          
SP2:              -     -                     
SP3:              -                           


ECgene alternative splicing isoforms for ZNF480

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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ZNF480 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: AAAAAAAGCA
ZNF480 Expression
About this image

ZNF480 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

ZNF480 Protein Expression

UniProtKB/Swiss-Prot: ZN480_HUMAN, Q8WV37
Tissue specificity: Expressed in fetal heart, heart, skeletal muscle, pancreas and placenta

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In Situ
Assay Products:
 

 
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(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of mammals.

Orthologs for ZNF480 gene from Selected species (see all 3)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
dog
(Canis familiaris)
Mammalia --
Uncharacterized protein
45(a)
many ↔ many
1(104690694-104701603)


ENSEMBL Gene Tree for ZNF480 (if available)
TreeFam Gene Tree for ZNF480 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for ZNF480 gene
ZNF5342  ZNF321P2  ZNF4682  ZNF5782  ZNF8802  ZNF7662  ZNF3202  ZNF5252  
ZNF8602  ZNF4152  ZNF6002  ZNF282  ZNF5282  ZNF6112  ZNF6772  ZNF832  
ZNF8162  ZNF6102  ZNF7012  ZNF7652  ZNF8132  
Selected SIMAP similar genes for ZNF480 using alignment to 6 protein entries:     ZN480_HUMAN (see all proteins) (see all similar genes):
MKRN1    DAPK2    IFT122    COX7A2    FAM3A    KLHDC1
NSD1    SUN3    ZNF677    ZNF528    ZNF78L1    kr-znf3
ZNF83    ZNF880    ZNF616    ZNF519    ZFS-6    ZNF146

Find genes that share paralogs with ZNF480           About GenesLikeMe



(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for ZNF480 (see all 712)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 19 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
VAR_0355844
A colorectal cancer sample4--see VAR_0355842 H Q mis40--------
rs1857762831,2
--52798492(+) GCAGCA/GGTGTG 1 -- us2k10--------
rs104044571,2
C,F,A--52798496(+) CGGTGC/TGATCT 1 -- us2k13Minor allele frequency- T:0.50NA CSA 6
rs1903674231,2
--52798520(+) CCTCCA/GCCTCC 1 -- us2k10--------
rs1431414081,2
--52798529(+) CCCAGA/GCTCAA 1 -- us2k10--------
rs1826244811,2
--52798624(+) TAGAGA/GTGGGG 1 -- us2k10--------
rs1854843661,2
--52798690(+) GCTTCA/GGCCTC 1 -- us2k10--------
rs48019111,2
C,F,A--52798729(+) CACCAT/CGCCCG 1 -- us2k18Minor allele frequency- C:0.46WA NA CSA EA 368
rs1482397971,2
--52798734(+) TGCCCG/TGCCAG 1 -- us2k10--------
rs557837201,2
C,F--52798735(+) GCCCGG/ACCAGA 1 -- us2k11Minor allele frequency- A:0.10NA 120

HapMap Linkage Disequilibrium report for ZNF480 (52800426 - 52829175 bp)

Structural Variations
     Database of Genomic Variants (DGV) 4 variations for ZNF480:    About this table    
Variant IDTypeSubtypePubMed ID
nsv458742CNV Loss19166990
nsv912299CNV Loss21882294
esv27010CNV Loss19812545
nsv833873CNV Gain17160897

Human Gene Mutation Database (HGMD): ZNF480
Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing ZNF480
DNA2.0 Custom Variant and Variant Library Synthesis for ZNF480

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 613910    OMIM disorders: --


Find genes that share disorders with ZNF480           About GenesLikeMe

Genetic Association Database (GAD): ZNF480
Human Genome Epidemiology (HuGE) Navigator: ZNF480 (1 document)

Export disorders for ZNF480 gene to outside databases

(in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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PubMed articles for ZNF480 gene, integrated from 10 sources (see all 13):
(articles sorted by number of sources associating them with ZNF480)
    Utopia: connect your pdf to the dynamic
world of online information

  1. A novel KRAB zinc-finger protein, ZNF480, expresses in human heart and activates transcriptional activities of AP-1 and SRE. (PubMed id 15219843)1, 2, 3 Yi Z.... Wu X. (Biochem. Biophys. Res. Commun. 2004)
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
  5. A Y2H-seq approach defines the human protein methyltransferase interactome. (PubMed id 23455924)1 Weimann M.... Stelzl U. (Nat. Methods 2013)
  6. Investigation of rare variants in LRP1, KPNA1, ALS2CL and ZNF480 genes in schizophrenia patients reflects genetic heterogeneity of the disease. (PubMed id 23425335)1 Jouan L....Rouleau G.A. (Behav Brain Funct 2013)
  7. Methods for quantification of in vivo changes in protein ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (amp 2012)
  8. Global analysis of host-pathogen interactions that regulate early-stage HIV-1 replication. (PubMed id 18854154)1 KAPnig R....Chanda S.K. (Cell 2008)
  9. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (amp 2008)
  10. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (BMC Genomics 2007)

(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 147657 HGNC: 23305 AceView: ZNF480 Ensembl:ENSG00000198464 euGenes: HUgn147657
ECgene: ZNF480 H-InvDB: ZNF480

(According to HUGE)
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  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for ZNF480 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for ZNF480 gene:
Search GeneIP for patents involving ZNF480

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014

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